DFNA54
MCID: DFN272
MIFTS: 23

Deafness, Autosomal Dominant 54 (DFNA54)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Deafness, Autosomal Dominant 54

MalaCards integrated aliases for Deafness, Autosomal Dominant 54:

Name: Deafness, Autosomal Dominant 54 56 71
Autosomal Dominant Nonsyndromic Deafness 54 12 15
Dfna54 56 12
Autosomal Dominant Deafness 54 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
age of onset 5 to 40 years
older individuals had moderate to severe hearing loss
one swiss family with 19 affected individuals has been described (last curated february 2014)


HPO:

31
deafness, autosomal dominant 54:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110580
OMIM 56 615649
OMIM Phenotypic Series 56 PS124900
ICD10 32 H90.3
MedGen 41 C3888029
UMLS 71 C3888029

Summaries for Deafness, Autosomal Dominant 54

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.

MalaCards based summary : Deafness, Autosomal Dominant 54, also known as autosomal dominant nonsyndromic deafness 54, is related to deafness, autosomal dominant 6 and deafness, autosomal dominant 1. An important gene associated with Deafness, Autosomal Dominant 54 is DFNA54 (Deafness, Autosomal Dominant 54). Related phenotype is hearing impairment.

More information from OMIM: 615649 PS124900

Related Diseases for Deafness, Autosomal Dominant 54

Diseases in the Rare Deafness family:

Deafness, Autosomal Dominant 1 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Recessive 2 Deafness, Autosomal Dominant 2a
Deafness, Autosomal Recessive 3 Deafness, Autosomal Dominant 4a
Deafness, Autosomal Recessive 5 Deafness, Autosomal Dominant 6
Deafness, Autosomal Recessive 6 Deafness, Autosomal Recessive 7
Deafness, Autosomal Dominant 5 Deafness, Autosomal Recessive 9
Deafness, Autosomal Recessive 8 Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 9
Deafness, Autosomal Recessive 12 Deafness, Autosomal Dominant 7
Deafness, Autosomal Dominant 12 Deafness, Autosomal Dominant 3a
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 18a Deafness, Autosomal Dominant 15
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 13
Deafness, Autosomal Dominant 17 Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 20
Deafness, Autosomal Dominant 20 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 25
Deafness, Autosomal Recessive 27 Deafness, Autosomal Dominant 18
Deafness, Autosomal Dominant 24 Deafness, Autosomal Dominant 22
Deafness, Autosomal Dominant 30 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 21 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 31 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive Deafness, Autosomal Recessive 33
Deafness, Autosomal Dominant 44 Deafness, Autosomal Dominant 52
Deafness, Autosomal Recessive 37 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 41
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 39
Deafness, Autosomal Dominant 49 Deafness, Autosomal Dominant 43
Deafness, Autosomal Recessive 35 Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 31 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 48 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 42 Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 53 Deafness, Autosomal Recessive 28
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 47
Deafness, Autosomal Recessive 55 Deafness, Autosomal Dominant 53
Deafness, Autosomal Recessive 62 Deafness, Autosomal Recessive 49
Deafness, Autosomal Recessive 44 Deafness, Autosomal Recessive 66
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 65
Deafness, Autosomal Recessive 67 Deafness, Autosomal Recessive 68
Deafness, Autosomal Recessive 24 Deafness, Autosomal Recessive 63
Deafness, Autosomal Dominant 27 Deafness, Autosomal Recessive 45
Deafness, Autosomal Dominant 59 Deafness, Autosomal Dominant 3b
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive 1b
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 50
Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 25
Deafness, Autosomal Recessive 79 Deafness, Autosomal Recessive 84a
Deafness, Autosomal Recessive 85 Deafness, Autosomal Recessive 91
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 83
Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 61
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 29
Deafness, Autosomal Dominant 64 Deafness, Autosomal Dominant 33
Deafness, Autosomal Recessive 96 Deafness, Autosomal Dominant 4b
Deafness, Autosomal Recessive 86 Deafness, Autosomal Recessive 98
Deafness, Autosomal Recessive 93 Deafness, Autosomal Recessive 70
Deafness, Autosomal Recessive 84b Deafness, Autosomal Recessive 18b
Deafness, Autosomal Recessive 88 Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 56 Deafness, Autosomal Dominant 54
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 101
Deafness, Autosomal Recessive 102 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 65 Deafness, Autosomal Dominant 67
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 104
Deafness, Autosomal Dominant 69 Deafness, Autosomal Recessive 97
Deafness, Autosomal Dominant 68 Deafness, Autosomal Dominant 70
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 71
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 106
Deafness, Autosomal Recessive 107 Deafness, Autosomal Recessive 108
Deafness, Autosomal Dominant 73 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 Deafness, Autosomal Recessive 110
Deafness, Autosomal Dominant 74 Deafness, Autosomal Recessive 111
Deafness, Autosomal Recessive 112 Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100 Deafness, Autosomal Recessive 94
Deafness, Autosomal Recessive 114 Deafness, Autosomal Recessive 115
Deafness, Autosomal Recessive 99 Deafness, Autosomal Dominant 37
Deafness, Autosomal Dominant 75 Deafness, Autosomal Dominant 76
Deafness, Autosomal Dominant 77 Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 106
Autosomal Recessive Nonsyndromic Deafness 107 Autosomal Recessive Nonsyndromic Deafness 108
Autosomal Dominant Nonsyndromic Deafness 71 Autosomal Dominant Nonsyndromic Deafness 72
Autosomal Dominant Nonsyndromic Deafness 73 Autosomal Dominant Nonsyndromic Deafness 34
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 32
Autosomal Recessive Nonsyndromic Deafness 36 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

Diseases related to Deafness, Autosomal Dominant 54 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 6 29.5 WFS1 POU4F3 DIAPH1
2 deafness, autosomal dominant 1 29.1 WFS1 MYH14 DIAPH1
3 autosomal dominant nonsyndromic deafness 28.7 WFS1 POU4F3 MYH14 GRXCR2 GRXCR1 DIAPH1
4 deafness, autosomal dominant 15 10.2
5 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
6 wolfram syndrome 10.2
7 deafness, autosomal recessive 101 9.9 POU4F3 GRXCR2
8 deafness, autosomal dominant 9 9.6 WFS1 POU4F3
9 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.5 GRXCR2 GRXCR1
10 auditory system disease 9.5 WFS1 POU4F3
11 deafness, autosomal dominant 16 9.5 POU4F3 MYH14
12 rare genetic deafness 9.4 WFS1 GRXCR1 DIAPH1
13 nonsyndromic hearing loss 9.2 WFS1 MYH14 DIAPH1
14 autosomal dominant non-syndromic sensorineural deafness type dfna 9.2 WFS1 POU4F3 MYH14
15 sensorineural hearing loss 8.8 WFS1 POU4F3 MYH14 DIAPH1

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 54:



Diseases related to Deafness, Autosomal Dominant 54

Symptoms & Phenotypes for Deafness, Autosomal Dominant 54

Human phenotypes related to Deafness, Autosomal Dominant 54:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
hearing loss, sensorineural, low-frequency
vertigo, single occurrence (in 2 patients)

Clinical features from OMIM:

615649

Drugs & Therapeutics for Deafness, Autosomal Dominant 54

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 54

Genetic Tests for Deafness, Autosomal Dominant 54

Anatomical Context for Deafness, Autosomal Dominant 54

Publications for Deafness, Autosomal Dominant 54

Articles related to Deafness, Autosomal Dominant 54:

# Title Authors PMID Year
1
DFNA54, a third locus for low-frequency hearing loss. 56 61
15490091 2004
2
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
3
Phenotypic characterization of a DFNA6 family showing progressive low-frequency sensorineural hearing impairment. 61
16043233 2006

Variations for Deafness, Autosomal Dominant 54

Expression for Deafness, Autosomal Dominant 54

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 54.

Pathways for Deafness, Autosomal Dominant 54

GO Terms for Deafness, Autosomal Dominant 54

Cellular components related to Deafness, Autosomal Dominant 54 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microvillus GO:0005902 8.96 GRXCR2 GRXCR1
2 stereocilium GO:0032420 8.62 GRXCR2 GRXCR1

Biological processes related to Deafness, Autosomal Dominant 54 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of cell shape GO:0008360 9.16 MYH14 DIAPH1
2 sensory perception of sound GO:0007605 9.1 WFS1 POU4F3 MYH14 GRXCR2 GRXCR1 DIAPH1
3 inner ear receptor cell stereocilium organization GO:0060122 8.96 GRXCR2 GRXCR1

Sources for Deafness, Autosomal Dominant 54

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....